Article - EDS FAQ's

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The Facts About EDS

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable

connective tissue disorders, characterized by articular (joint)

hypermobility, skin extensibility and tissue fragility. There are six major

types of EDS. The different types of EDS are classified according to their

manifestations of signs and symptoms. Each type of EDS is a distinct

disorder that " runs true " in a family. This means that an individual with

Vascular Type EDS will not have a child with Classical Type EDS. Individuals

with EDS have a defect in their connective tissue, the tissue which provides

support to many body parts such as the skin, muscles and ligaments. The

fragile skin and unstable joints found in EDS are the result of faulty

collagen. Collagen is a protein which acts as a " glue " in the body, adding

strength and elasticity to connective tissue.

Symptoms

Clinical manifestations of EDS are most often skin and joint related and may

include:

Skin: soft velvet-like skin; variable skin hyperextensibility; fragile skin

that tears or bruises easily (bruising may be severe); severe scarring; slow

and poor wound healing; development of molluscoid pseudotumors (fleshy

lesions associated with scars over pressure areas).

Joints: joint hypermobility; loose/unstable joints which are prone to

frequent dislocations and/or subluxations; joint pain; hyperextensible

joints (they move beyond the joint's normal range); early onset of

osteoarthritis.

Miscellaneous/Less Common: chronic, early onset, debilitating

musculoskeletal pain (usually associated with the Hypermobility Type);

arterial/intestinal/uterine fragility or rupture (usually associated with

the Vascular Type); Scoliosis at birth and scleral fragility (associated

with the Kyphoscoliosis Type); poor muscle tone (associated with the

Arthrochalasia Type); mitral valve prolapse; and gum disease.

Prevalence

At this time, research statistics of EDS show the prevalence as 1 in 5,000

to 1 in 10,000. It is known to affect both males and females of all racial

and ethnic backgrounds.

Hereditary Patterns

The two known inheritance patterns for EDS include autosomal dominant and

autosomal recessive. Regardless of the inheritance pattern, we have no

choice in which genes we pass on to our children.

How is EDS Diagnosed

Diagnosis of EDS is based upon clinical findings and upon the family

history. Since many patients do not fit neatly into one of the specific

types of EDS, a diagnosis is often delayed or overlooked. Specific

diagnostic tests are available for some types of EDS in which there is a

known biochemical defect. Sometimes, a physician may perform a skin biopsy

to study the chemical makeup of the connective tissue. The biopsy involves

removing a small piece of skin, under local anesthesia. Physicians who are

able to diagnose EDS may include medical geneticists, pediatricians,

rheumatologists and dermatologists.

Treatment/Management of EDS

The gaping skin wounds, which are common in several types of EDS, should be

approached with care. Proper repair of these wounds is necessary to prevent

cosmetic disfigurement. Surgical procedures can be risky, as fragile tissues

can unexpectedly tear. Suturing may present problems for the same reason.

Excessive sun exposure should be avoided by the daily use of sunscreen. One

should avoid activities that cause the joint to lock or overextend.

A physician may prescribe bracing to stabilize joints. Surgical repair of

joints may be necessary at some time. Physicians may also consult a physical

and/or occupational therapist to help strengthen muscles and to teach people

how to properly use and preserve their joints. To decrease bruising and

improve wound healing, some patients have responded to ascorbic acid

(vitamin C) by taking 1 to 4 grams daily. Prior to starting a regimen such

as this, it is imperative to consult with your physician for specific

recommendations.

Patients should be provided with information about the disorder, so they can

understand why contact sports and other physically stressful activities

should be avoided. Children should be taught early on that demonstrating the

unusual positions they can maintain due to loose joints should not be done

as this may cause early degeneration of the joints. Family members, teachers

and friends should be provided with information about EDS so they can accept

and assist the child as necessary.

Prognosis

The prognosis of EDS depends on the specific type. Life expectancy can be

shortened with the Vascular Type of EDS due to the possibility of organ and

vessel rupture. Life expectancy in all other types is normal.

Reference:

Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., & Wenstrup, R. (in

press). Ehlers-Danlos Syndrome: Revised Nosology, Villefranche, 1997.

American Journal of Medical Genetics.